Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis
| Autor: | Olivier Loréal, Edouard Bardou-Jacquet, Caroline Le Lan, Xavier Causse, Marie-Pascale Beaumont-Epinette, Yves Deugnier, Anne-Marie Jouanolle, Zeineb Ben Ali, Pierre Brissot, Véronique Loustaud-Ratti, Houda Hamdi-Rozé |
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| Přispěvatelé: | CHU Pontchaillou [Rennes], Pharmacologie des Immunosuppresseurs et de la Transplantation (PIST), Université de Limoges (UNILIM)-CHU Limoges-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Institut National de la Santé et de la Recherche Médicale (INSERM), Foie, métabolismes et cancer, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Université de Limoges (UNILIM)-CHU Limoges, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ) |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Adult Male congenital hereditary and neonatal diseases and abnormalities Iron Overload [SDV.CAN]Life Sciences [q-bio]/Cancer 03 medical and health sciences 0302 clinical medicine medicine Coding region Humans Clinical significance Hemochromatosis Protein Gene Hemochromatosis Aged Genetics business.industry Homozygote Genetic Variation nutritional and metabolic diseases [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology Hematology Sequence Analysis DNA Middle Aged medicine.disease Phenotype 3. Good health 030104 developmental biology 030211 gastroenterology & hepatology Female HAMP business |
| Zdroj: | American Journal of Hematology American Journal of Hematology, 2016, 91 (12), pp.1202--1205. ⟨10.1002/ajh.24535⟩ American Journal of Hematology, Wiley, 2016, 91 (12), pp.1202--1205. ⟨10.1002/ajh.24535⟩ |
| ISSN: | 0361-8609 1096-8652 |
| DOI: | 10.1002/ajh.24535⟩ |
| Popis: | International audience; p.Cys282Tyr (C282Y) homozygosity explains most cases of HFE-related hemochromatosis, but a significant number of patients presenting with typical type I hemochromatosis phenotype remain unexplained. We sought to describe the clinical relevance of rare HFE variants in non-C282Y homozygotes. Patients referred for hemochromatosis to the National Reference Centre for Rare Iron Overload Diseases from 2004 to 2010 were studied. Sequencing was performed for coding region and intronic flanking sequences of HFE, HAMP, HFE2, TFR2, and SLC40A1. Nine private HFE variants were identified in 13 of 206 unrelated patients. Among those, five have not been previously described: p.Leu270Argfs*4, p.Ala271Valfs*25, p.Tyr52*, p.Lys166Asn, and p.Asp141Tyr. Our results show that rare HFE variants are identified more frequently than variants in the other genes associated with iron overload. Rare HFE variants are therefore the most frequent cause of hemochromatosis in non-C282Y homozygote HFE patients. Am. J. Hematol. 91:1202–1205, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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